Palmitoyl protein thioesterase

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Palmitoyl protein thioesterase 1. Red plane shows hydrocarbon boundary of the lipid bilayer
Identifiers
Symbol	Palm_thioest
Pfam	PF02089
InterPro	IPR002472
SCOP	1exw
OPM family	135
OPM protein	1eh5
Available PDB structures: 1eh5A:28-306 1ei9A:28-306 1exwA:28-306 1pjaA:32-302

Palmitoyl protein thioesterases are enzymes (EC 3.1.2.22) that remove thioester-linked fatty acyl groups such as palmitate from modified cysteine residues in proteins or peptides during lysosomal degradation.

Neuronal ceroid lipofuscinoses (NCL) represent a group of encephalopathies that occur in 1 in 12,500 children. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis^[1]. The most common mutation results in intracellular accumulation of the polypeptide and undetectable enzyme activity in the brain. Direct sequencing of cDNAs derived from brain RNA of INCL patients has shown a mis-sense transversion of A to T at nucleotide position 364, which results in substitution of Trp for Arg at position 122 in the protein - Arg 122 is immediately adjacent to a lipase consensus sequence that contains the putative active site Ser of PPT. The occurrence of this and two other independent mutations in the PPT gene strongly suggests that defects in this gene cause INCL.

[edit] Human proteins containing this domain

PPT1; PPT2;

[edit] References

This article includes text from the public domain Pfam and InterPro IPR002472